Associated Papers
Clinical and Molecular Characterization of Five Additional Individuals With SATB2-Associated Syndrome in Guangxi.
Yi S et al.
Biochemical Genetics, 2026
Functional characterization of pathogenic SATB2 missense variants identifies distinct effects on chromatin binding and transcriptional activity.
den Hoed J et al.
Hgg Advances, 2026
Pathogenic SATB2 missense variants affecting p.Gly392 have variable functional implications and result in diverse clinical phenotypes.
den Hoed J et al.
Journal of Medical Genetics, 2024
Whole genome sequencing of 45 Japanese patients with intellectual disability.
Abe-Hatano C et al.
American Journal of Medical Genetics. Part A, 2021
A clinical survey of mosaic single nucleotide variants in disease-causing genes detected by exome sequencing.
Cao Y et al.
Genome Medicine, 2019
Natural history and genotype-phenotype correlations in 72 individuals with SATB2-associated syndrome.
Zarate YA et al.
American Journal of Medical Genetics. Part A, 2018
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